Revel Score:
ENST00000262407 (MANE Select)
0.155
ENST00000353281
0.155
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374449C>A , CM000679.2:g.44374449C>A | GRCh38 |
| NC_000017.10:g.42451817C>A , CM000679.1:g.42451817C>A | GRCh37 |
| NC_000017.9:g.39807343C>A | NCBI36 |
| NG_008331.1:g.20057G>T , LRG_479:g.20057G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2965G>T MANE Select | ENSP00000262407.5:p.Ala989Ser | |
| ENST00000648408.1:c.2374+210G>T | ||
| ENST00000262407.5:c.2965G>T | ENSP00000262407.5:p.Ala989Ser | |
| ENST00000587295.5:c.253+1384G>T | ||
| ENST00000588098.1:c.37+210G>T | ||
| ENST00000592462.5:n.2664G>T | ||
| NM_000419.3:c.2965G>T , LRG_479t1:c.2965G>T | NP_000410.2:p.Ala989Ser | |
| XM_011524749.1:c.2863G>T | XP_011523051.1:p.Ala955Ser | |
| XM_011524750.1:c.2943+210G>T | XP_011523052.1:n.2943+210G>T | |
| NM_000419.4:c.2965G>T | NP_000410.2:p.Ala989Ser | |
| NM_000419.5:c.2965G>T MANE Select | NP_000410.2:p.Ala989Ser |